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MEF2C myocyte enhancer factor 2C [ Homo sapiens (human) ]

Gene ID: 4208, updated on 11-Apr-2024

Summary

Official Symbol
MEF2Cprovided by HGNC
Official Full Name
myocyte enhancer factor 2Cprovided by HGNC
Primary source
HGNC:HGNC:6996
See related
Ensembl:ENSG00000081189 MIM:600662; AllianceGenome:HGNC:6996
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NEDHSIL; DEL5q14.3; C5DELq14.3
Summary
This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe cognitive disability, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]
Expression
Broad expression in brain (RPKM 55.2), lymph node (RPKM 17.7) and 19 other tissues See more
Orthologs
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Genomic context

Location:
5q14.3
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (88717117..88904105, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (89198250..89385215, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (88012934..88199922, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene MIR9-2 host gene Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr5:87967483-87968095 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr5:87968096-87968709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22758 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:87971545-87972110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:87975792-87976292 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:87981074-87981697 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:87980449-87981073 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:87985094-87985772 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:87985773-87986452 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:87987008-87987234 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:87991751-87992730 Neighboring gene MEF2C antisense RNA 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22759 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22760 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22761 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22762 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:88039231-88040430 Neighboring gene microRNA 9-2 Neighboring gene glioma stem cell association long noncoding RNA Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22763 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22764 Neighboring gene Sharpr-MPRA regulatory region 14259 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22765 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:88185154-88185690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:88185691-88186225 Neighboring gene MEF2C antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 5119 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16165 Neighboring gene VISTA enhancer hs503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22769 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22770 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22771 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22772 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22773 Neighboring gene VISTA enhancer hs789 Neighboring gene uncharacterized LOC105379074 Neighboring gene uncharacterized LOC105379073

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Intellectual disability, autosomal dominant 20
MedGen: C3150700 OMIM: 613443 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

Little evidence for dosage pathogenicity (Last evaluated 2020-02-26)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-02-26)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
EBI GWAS Catalog
Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.
EBI GWAS Catalog
Genetic loci for retinal arteriolar microcirculation.
EBI GWAS Catalog
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
EBI GWAS Catalog
Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.
EBI GWAS Catalog
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
EBI GWAS Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
EBI GWAS Catalog
Meta-analysis of genome-wide studies identifies MEF2C SNPs associated with bone mineral density at forearm.
EBI GWAS Catalog
Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.
EBI GWAS Catalog
New gene functions in megakaryopoiesis and platelet formation.
EBI GWAS Catalog
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables DNA-binding transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables histone deacetylase binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables minor groove of adenine-thymine-rich DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables transcription cis-regulatory region binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
acts_upstream_of_negative_effect AMPA selective glutamate receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in B cell homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in B cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in B cell receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in MAPK cascade IDA
Inferred from Direct Assay
more info
PubMed 
involved_in MAPK cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_negative_effect NMDA selective glutamate receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in blood vessel development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in blood vessel remodeling ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardiac ventricle formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cell morphogenesis involved in neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to calcium ion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to fluid shear stress ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to lipopolysaccharide ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to parathyroid hormone stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to transforming growth factor beta stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to trichostatin A ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to xenobiotic stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in chondrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endochondral ossification ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in epithelial cell proliferation involved in renal tubule morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in excitatory postsynaptic potential ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in germinal center formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in glomerulus morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in heart development IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in heart development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in heart development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in heart development NAS
Non-traceable Author Statement
more info
PubMed 
involved_in heart looping ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in humoral immune response ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in learning or memory ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in melanocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in muscle cell fate determination ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in muscle organ development TAS
Traceable Author Statement
more info
PubMed 
involved_in myotube differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in negative regulation of blood vessel endothelial cell migration IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in negative regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of neuron apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of ossification IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of vascular associated smooth muscle cell migration IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of vascular associated smooth muscle cell migration IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in negative regulation of vascular associated smooth muscle cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of vascular associated smooth muscle cell proliferation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in negative regulation of vascular endothelial cell proliferation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in nephron tubule epithelial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in nervous system development TAS
Traceable Author Statement
more info
PubMed 
involved_in neural crest cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in neuron development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neuron differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neuron migration ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in osteoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in outflow tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in platelet formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of B cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of alkaline phosphatase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of behavioral fear response ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of bone mineralization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of cardiac muscle cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cardiac muscle cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of macrophage apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of myoblast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of osteoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of skeletal muscle cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of skeletal muscle tissue development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in primary heart field specification ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of dendritic spine development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of germinal center formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of megakaryocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of neuron apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of neurotransmitter secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of synapse assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of synaptic activity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of synaptic plasticity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of synaptic transmission, glutamatergic ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in renal tubule morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in response to ischemia ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in secondary heart field specification ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in sinoatrial valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in skeletal muscle tissue development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in smooth muscle cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in ventricular cardiac muscle cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in nuclear speck IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in postsynapse IEA
Inferred from Electronic Annotation
more info
 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in sarcoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
myocyte-specific enhancer factor 2C
Names
MADS box transcription enhancer factor 2, polypeptide C

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023427.1 RefSeqGene

    Range
    25922..191989
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001131005.2NP_001124477.1  myocyte-specific enhancer factor 2C isoform 2

    See identical proteins and their annotated locations for NP_001124477.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AC008525, AL833268, AL833274, BP231922, L08895
    Consensus CDS
    CCDS47244.1
    UniProtKB/TrEMBL
    B2R681
    Related
    ENSP00000389610.2, ENST00000424173.6
    Conserved Domains (2) summary
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    pfam12347
    Location:97150
    HJURP_C; Holliday junction regulator protein family C-terminal repeat
  2. NM_001193347.1NP_001180276.1  myocyte-specific enhancer factor 2C isoform 3

    See identical proteins and their annotated locations for NP_001180276.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 3, which is longer than isoform 1.
    Source sequence(s)
    AC008525, AL833268, AL833274, BP231922, L08895
    Consensus CDS
    CCDS54878.1
    UniProtKB/TrEMBL
    B2R681
    Related
    ENSP00000340874.5, ENST00000340208.9
    Conserved Domains (3) summary
    COG5068
    Location:1263
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    pfam12347
    Location:117170
    HJURP_C; Holliday junction regulator protein family C-terminal repeat
  3. NM_001193348.1NP_001180277.1  myocyte-specific enhancer factor 2C isoform 4

    See identical proteins and their annotated locations for NP_001180277.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and lacks two alternate in-frame exons in the coding region, compared to variant 1. This results in a shorter protein (isoform 4), compared to isoform 1.
    Source sequence(s)
    AC008525, AL833268, FM163484, L08895
    Consensus CDS
    CCDS54877.1
    UniProtKB/TrEMBL
    B2R681
    Related
    ENSP00000487311.1, ENST00000628656.2
    Conserved Domains (2) summary
    COG5068
    Location:1229
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
  4. NM_001193349.3NP_001180278.1  myocyte-specific enhancer factor 2C isoform 5

    See identical proteins and their annotated locations for NP_001180278.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks an alternate in-frame exon in the 5' coding region and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 5), compared to isoform 1. Variants 5 and 12 both encode the same isoform (5).
    Source sequence(s)
    AC008525, AC008835
    Consensus CDS
    CCDS78030.1
    UniProtKB/TrEMBL
    B2R681, D8L7E9
    Conserved Domains (1) summary
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
  5. NM_001193350.2NP_001180279.1  myocyte-specific enhancer factor 2C isoform 1

    See identical proteins and their annotated locations for NP_001180279.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1, 6, and 9-11 all encode the same isoform (1).
    Source sequence(s)
    AC008525, AL833268, BC026341, L08895
    Consensus CDS
    CCDS47245.1
    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
    UniProtKB/TrEMBL
    B2R681
    Related
    ENSP00000396219.2, ENST00000437473.6
    Conserved Domains (2) summary
    COG5068
    Location:1245
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
  6. NM_001308002.3NP_001294931.1  myocyte-specific enhancer factor 2C isoform 6

    See identical proteins and their annotated locations for NP_001294931.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (6) is shorter than isoform 1. Variants 7 and 13 both encode the same isoform (6).
    Source sequence(s)
    AC008525, AC008835
    Consensus CDS
    CCDS78034.1
    UniProtKB/TrEMBL
    B2R681
    Related
    ENSP00000423597.2, ENST00000508569.5
    Conserved Domains (2) summary
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    pfam12347
    Location:107152
    HJURP_C; Holliday junction regulator protein family C-terminal repeat
  7. NM_001363581.2NP_001350510.1  myocyte-specific enhancer factor 2C isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR, the 3' UTR, and the 3' coding sequence compared to variant 1. The resulting isoform (7) has a shorter and distinct C-terminus compared to isoform 1. Variants 8 and 14-17 all encode the same isoform (7).
    Source sequence(s)
    AC008525, AC008835
    Consensus CDS
    CCDS87313.1
    UniProtKB/TrEMBL
    B2R681
    Conserved Domains (2) summary
    COG5068
    Location:1245
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
  8. NM_001364329.2NP_001351258.1  myocyte-specific enhancer factor 2C isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variants 1, 6, 10, and 11, encodes isoform 1.
    Source sequence(s)
    AC008525, AC008835
    Consensus CDS
    CCDS47245.1
    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
    UniProtKB/TrEMBL
    B2R681
    Conserved Domains (2) summary
    COG5068
    Location:1245
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
  9. NM_001364330.2NP_001351259.1  myocyte-specific enhancer factor 2C isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variants 1, 6, 9, and 11, encodes isoform 1.
    Source sequence(s)
    AC008525, AC008835
    Consensus CDS
    CCDS47245.1
    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
    UniProtKB/TrEMBL
    B2R681
    Conserved Domains (2) summary
    COG5068
    Location:1245
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
  10. NM_001364331.2NP_001351260.1  myocyte-specific enhancer factor 2C isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11), as well as variants 1, 6, 9, and 10, encodes isoform 1.
    Source sequence(s)
    AC008525, AC008835
    Consensus CDS
    CCDS47245.1
    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
    UniProtKB/TrEMBL
    B2R681
    Conserved Domains (2) summary
    COG5068
    Location:1245
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
  11. NM_001364332.2NP_001351261.1  myocyte-specific enhancer factor 2C isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12), as well as variant 5, encodes isoform 5.
    Source sequence(s)
    AC008525, AC008835
    Consensus CDS
    CCDS78030.1
    UniProtKB/TrEMBL
    B2R681, D8L7E9
    Related
    ENSP00000487184.1, ENST00000626391.2
    Conserved Domains (1) summary
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
  12. NM_001364333.2NP_001351262.1  myocyte-specific enhancer factor 2C isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13), as well as variant 7, encodes isoform 6.
    Source sequence(s)
    AC008525, AC008835
    Consensus CDS
    CCDS78034.1
    UniProtKB/TrEMBL
    B2R681
    Related
    ENSP00000490354.1, ENST00000637481.1
    Conserved Domains (2) summary
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    pfam12347
    Location:107152
    HJURP_C; Holliday junction regulator protein family C-terminal repeat
  13. NM_001364334.2NP_001351263.1  myocyte-specific enhancer factor 2C isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14), as well as variants 8, 15, 16, and 17, encodes isoform 7.
    Source sequence(s)
    AC008525, AC008835
    Consensus CDS
    CCDS87313.1
    UniProtKB/TrEMBL
    B2R681
    Conserved Domains (2) summary
    COG5068
    Location:1245
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
  14. NM_001364335.2NP_001351264.1  myocyte-specific enhancer factor 2C isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15), as well as variants 8, 14, 16, and 17, encodes isoform 7.
    Source sequence(s)
    AC008525, AC008835
    Consensus CDS
    CCDS87313.1
    UniProtKB/TrEMBL
    B2R681
    Related
    ENSP00000426665.2, ENST00000514028.5
    Conserved Domains (2) summary
    COG5068
    Location:1245
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
  15. NM_001364336.2NP_001351265.1  myocyte-specific enhancer factor 2C isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (16), as well as variants 8, 14, 15, and 17, encodes isoform 7.
    Source sequence(s)
    AC008525, AC008835
    Consensus CDS
    CCDS87313.1
    UniProtKB/TrEMBL
    B2R681
    Related
    ENSP00000424606.1, ENST00000514015.5
    Conserved Domains (2) summary
    COG5068
    Location:1245
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
  16. NM_001364337.2NP_001351266.1  myocyte-specific enhancer factor 2C isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (17), as well as variants 8, 14, 15, and 16, encodes isoform 7.
    Source sequence(s)
    AC008525, AC008835
    Consensus CDS
    CCDS87313.1
    UniProtKB/TrEMBL
    B2R681
    Related
    ENSP00000490630.1, ENST00000636998.1
    Conserved Domains (2) summary
    COG5068
    Location:1245
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
  17. NM_001364338.2NP_001351267.1  myocyte-specific enhancer factor 2C isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC008525, AC008835
    UniProtKB/TrEMBL
    B2R681
    Conserved Domains (3) summary
    COG5068
    Location:1263
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    pfam12347
    Location:117170
    HJURP_C; Holliday junction regulator protein family C-terminal repeat
  18. NM_001364339.2NP_001351268.1  myocyte-specific enhancer factor 2C isoform 9

    Status: REVIEWED

    Description
    Transcript Variant: This variant (19), as well as variants 20, 21, and 22, encodes isoform 9.
    Source sequence(s)
    AC008525, AC008835
    Consensus CDS
    CCDS93740.1
    UniProtKB/TrEMBL
    A0A0R4J2G5, B2R681
    Related
    ENSP00000422390.2, ENST00000510942.5
    Conserved Domains (2) summary
    COG5068
    Location:1245
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
  19. NM_001364340.2NP_001351269.1  myocyte-specific enhancer factor 2C isoform 9

    Status: REVIEWED

    Description
    Transcript Variant: This variant (20), as well as variants 19, 21, and 22, encodes isoform 9.
    Source sequence(s)
    AC008525, AC008835
    Consensus CDS
    CCDS93740.1
    UniProtKB/TrEMBL
    A0A0R4J2G5, B2R681
    Conserved Domains (2) summary
    COG5068
    Location:1245
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
  20. NM_001364341.2NP_001351270.1  myocyte-specific enhancer factor 2C isoform 9

    Status: REVIEWED

    Description
    Transcript Variant: This variant (21), as well as variants 19, 20, and 22, encodes isoform 9.
    Source sequence(s)
    AC008525, AC008835
    Consensus CDS
    CCDS93740.1
    UniProtKB/TrEMBL
    A0A0R4J2G5, B2R681
    Conserved Domains (2) summary
    COG5068
    Location:1245
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
  21. NM_001364342.2NP_001351271.1  myocyte-specific enhancer factor 2C isoform 9

    Status: REVIEWED

    Description
    Transcript Variant: This variant (22), as well as variants 19, 20, and 21, encodes isoform 9.
    Source sequence(s)
    AC008525, AC008835
    Consensus CDS
    CCDS93740.1
    UniProtKB/TrEMBL
    A0A0R4J2G5, B2R681
    Conserved Domains (2) summary
    COG5068
    Location:1245
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
  22. NM_001364343.2NP_001351272.1  myocyte-specific enhancer factor 2C isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC008525, AC008835
    Consensus CDS
    CCDS93738.1
    UniProtKB/TrEMBL
    A0A0D9SFD0, B2R681
    Conserved Domains (2) summary
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    pfam12347
    Location:97150
    HJURP_C; Holliday junction regulator protein family C-terminal repeat
  23. NM_001364344.2NP_001351273.1  myocyte-specific enhancer factor 2C isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC008525, AC008835
    UniProtKB/TrEMBL
    B2R681
    Conserved Domains (1) summary
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
  24. NM_001364345.2NP_001351274.1  myocyte-specific enhancer factor 2C isoform 12

    Status: REVIEWED

    Description
    Transcript Variant: This variant (25), as well as variants 26 and 27, encodes isoform 12.
    Source sequence(s)
    AC008525, AC008835
    UniProtKB/TrEMBL
    D6RJG6
    Conserved Domains (2) summary
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    pfam12347
    Location:107153
    HJURP_C; Holliday junction regulator protein family C-terminal repeat
  25. NM_001364346.2NP_001351275.1  myocyte-specific enhancer factor 2C isoform 12

    Status: REVIEWED

    Description
    Transcript Variant: This variant (26), as well as variants 25 and 27, encodes isoform 12.
    Source sequence(s)
    AC008525, AC008835
    UniProtKB/TrEMBL
    D6RJG6
    Related
    ENSP00000425636.1, ENST00000506554.5
    Conserved Domains (2) summary
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    pfam12347
    Location:107153
    HJURP_C; Holliday junction regulator protein family C-terminal repeat
  26. NM_001364347.2NP_001351276.1  myocyte-specific enhancer factor 2C isoform 12

    Status: REVIEWED

    Description
    Transcript Variant: This variant (27), as well as variants 25 and 26, encodes isoform 12.
    Source sequence(s)
    AC008525, AC008835
    UniProtKB/TrEMBL
    D6RJG6
    Conserved Domains (2) summary
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    pfam12347
    Location:107153
    HJURP_C; Holliday junction regulator protein family C-terminal repeat
  27. NM_001364348.2NP_001351277.1  myocyte-specific enhancer factor 2C isoform 13

    Status: REVIEWED

    Description
    Transcript Variant: This variant (28), as well as variants 29 and 30, encodes isoform 13.
    Source sequence(s)
    AC008525, AC008835
    UniProtKB/TrEMBL
    D6RJG6
    Conserved Domains (2) summary
    COG5068
    Location:1245
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
  28. NM_001364349.2NP_001351278.1  myocyte-specific enhancer factor 2C isoform 13

    Status: REVIEWED

    Description
    Transcript Variant: This variant (29), as well as variants 28 and 30, encodes isoform 13.
    Source sequence(s)
    AC008525, AC008835
    UniProtKB/TrEMBL
    D6RJG6
    Conserved Domains (2) summary
    COG5068
    Location:1245
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
  29. NM_001364350.2NP_001351279.1  myocyte-specific enhancer factor 2C isoform 13

    Status: REVIEWED

    Description
    Transcript Variant: This variant (30), as well as variants 28 and 29, encodes isoform 13.
    Source sequence(s)
    AC008525, AC008835
    UniProtKB/TrEMBL
    D6RJG6
    Conserved Domains (2) summary
    COG5068
    Location:1245
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
  30. NM_001364352.2NP_001351281.1  myocyte-specific enhancer factor 2C isoform 14

    Status: REVIEWED

    Source sequence(s)
    AC008525, AC008835
    UniProtKB/TrEMBL
    D6RJG6
    Conserved Domains (2) summary
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    pfam12347
    Location:97150
    HJURP_C; Holliday junction regulator protein family C-terminal repeat
  31. NM_001364353.2NP_001351282.1  myocyte-specific enhancer factor 2C isoform 15

    Status: REVIEWED

    Source sequence(s)
    AC008525
    UniProtKB/TrEMBL
    A0A0D9SGF3, A0A9L9PYA3
    Related
    ENSP00000516755.1, ENST00000707127.1
  32. NM_001364354.2NP_001351283.1  myocyte-specific enhancer factor 2C isoform 16

    Status: REVIEWED

    Description
    Transcript Variant: This variant (33), as well as variant 34, encodes isoform 16.
    Source sequence(s)
    AC008525, AC008835
    Conserved Domains (1) summary
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
  33. NM_001364355.2NP_001351284.1  myocyte-specific enhancer factor 2C isoform 16

    Status: REVIEWED

    Description
    Transcript Variant: This variant (34), as well as variant 33, encodes isoform 16.
    Source sequence(s)
    AC008525, AC008835
    Conserved Domains (1) summary
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
  34. NM_001364356.2NP_001351285.1  myocyte-specific enhancer factor 2C isoform 17

    Status: REVIEWED

    Source sequence(s)
    AC008525
    UniProtKB/TrEMBL
    A0A0D9SGF3
    Related
    ENSP00000487437.2, ENST00000503554.4
  35. NM_001364357.2NP_001351286.1  myocyte-specific enhancer factor 2C isoform 18

    Status: REVIEWED

    Source sequence(s)
    AC008525
    UniProtKB/TrEMBL
    A0A0D9SGF3
  36. NM_002397.5NP_002388.2  myocyte-specific enhancer factor 2C isoform 1

    See identical proteins and their annotated locations for NP_002388.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1. Variants 1, 6, and 9-11 all encode the same isoform (1).
    Source sequence(s)
    AC008525, AL833268, L08895
    Consensus CDS
    CCDS47245.1
    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
    UniProtKB/TrEMBL
    B2R681
    Related
    ENSP00000421925.5, ENST00000504921.7
    Conserved Domains (2) summary
    COG5068
    Location:1245
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    88717117..88904105 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543396.4XP_011541698.1  myocyte-specific enhancer factor 2C isoform X1

    See identical proteins and their annotated locations for XP_011541698.1

    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
    UniProtKB/TrEMBL
    B2R681
    Conserved Domains (2) summary
    COG5068
    Location:1245
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
  2. XM_017009478.3XP_016864967.1  myocyte-specific enhancer factor 2C isoform X4

    UniProtKB/TrEMBL
    B2R681
    Conserved Domains (2) summary
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    pfam12347
    Location:97150
    HJURP_C; Holliday junction regulator protein family C-terminal repeat
  3. XM_047417190.1XP_047273146.1  myocyte-specific enhancer factor 2C isoform X3

    Related
    ENSP00000486554.1, ENST00000629612.2
  4. XM_047417181.1XP_047273137.1  myocyte-specific enhancer factor 2C isoform X1

    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
  5. XM_047417202.1XP_047273158.1  myocyte-specific enhancer factor 2C isoform X4

  6. XM_047417191.1XP_047273147.1  myocyte-specific enhancer factor 2C isoform X3

  7. XM_047417182.1XP_047273138.1  myocyte-specific enhancer factor 2C isoform X1

    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
  8. XM_047417196.1XP_047273152.1  myocyte-specific enhancer factor 2C isoform X3

  9. XM_047417203.1XP_047273159.1  myocyte-specific enhancer factor 2C isoform X4

  10. XM_047417192.1XP_047273148.1  myocyte-specific enhancer factor 2C isoform X3

  11. XM_047417194.1XP_047273150.1  myocyte-specific enhancer factor 2C isoform X3

  12. XM_047417188.1XP_047273144.1  myocyte-specific enhancer factor 2C isoform X1

    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
  13. XM_047417217.1XP_047273173.1  myocyte-specific enhancer factor 2C isoform X8

  14. XM_047417201.1XP_047273157.1  myocyte-specific enhancer factor 2C isoform X3

  15. XM_047417185.1XP_047273141.1  myocyte-specific enhancer factor 2C isoform X1

    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
  16. XM_047417193.1XP_047273149.1  myocyte-specific enhancer factor 2C isoform X3

  17. XM_005248511.4XP_005248568.1  myocyte-specific enhancer factor 2C isoform X1

    See identical proteins and their annotated locations for XP_005248568.1

    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
    UniProtKB/TrEMBL
    B2R681
    Conserved Domains (2) summary
    COG5068
    Location:1245
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
  18. XM_024446058.2XP_024301826.1  myocyte-specific enhancer factor 2C isoform X2

    UniProtKB/TrEMBL
    A0A0D9SGI5, B2R681
    Conserved Domains (2) summary
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    pfam12347
    Location:97150
    HJURP_C; Holliday junction regulator protein family C-terminal repeat
  19. XM_047417195.1XP_047273151.1  myocyte-specific enhancer factor 2C isoform X3

  20. XM_024446055.2XP_024301823.1  myocyte-specific enhancer factor 2C isoform X1

    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
    UniProtKB/TrEMBL
    B2R681
    Conserved Domains (2) summary
    COG5068
    Location:1245
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
  21. XM_047417199.1XP_047273155.1  myocyte-specific enhancer factor 2C isoform X3

  22. XM_047417186.1XP_047273142.1  myocyte-specific enhancer factor 2C isoform X1

    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
  23. XM_047417189.1XP_047273145.1  myocyte-specific enhancer factor 2C isoform X2

    UniProtKB/TrEMBL
    A0A0D9SGI5
    Related
    ENSP00000487538.1, ENST00000625585.2
  24. XM_047417197.1XP_047273153.1  myocyte-specific enhancer factor 2C isoform X3

  25. XM_047417183.1XP_047273139.1  myocyte-specific enhancer factor 2C isoform X1

    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
  26. XM_047417187.1XP_047273143.1  myocyte-specific enhancer factor 2C isoform X1

    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
  27. XM_047417198.1XP_047273154.1  myocyte-specific enhancer factor 2C isoform X3

  28. XM_047417184.1XP_047273140.1  myocyte-specific enhancer factor 2C isoform X1

    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
    Related
    ENSP00000490473.1, ENST00000636294.1
  29. XM_024446059.2XP_024301827.1  myocyte-specific enhancer factor 2C isoform X2

    UniProtKB/TrEMBL
    A0A0D9SGI5, B2R681
    Conserved Domains (2) summary
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
    pfam12347
    Location:97150
    HJURP_C; Holliday junction regulator protein family C-terminal repeat
  30. XM_047417200.1XP_047273156.1  myocyte-specific enhancer factor 2C isoform X3

  31. XM_024446056.2XP_024301824.1  myocyte-specific enhancer factor 2C isoform X1

    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
    UniProtKB/TrEMBL
    B2R681
    Conserved Domains (2) summary
    COG5068
    Location:1245
    ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
    cd00265
    Location:278
    MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
  32. XM_047417208.1XP_047273164.1  myocyte-specific enhancer factor 2C isoform X6

    UniProtKB/TrEMBL
    A0A0R4J2G5
  33. XM_047417213.1XP_047273169.1  myocyte-specific enhancer factor 2C isoform X7

    UniProtKB/TrEMBL
    A0A0D9SFD0
    Related
    ENSP00000486490.1, ENST00000627659.2
  34. XM_047417206.1XP_047273162.1  myocyte-specific enhancer factor 2C isoform X6

    UniProtKB/TrEMBL
    A0A0R4J2G5
  35. XM_047417204.1XP_047273160.1  myocyte-specific enhancer factor 2C isoform X5

  36. XM_047417214.1XP_047273170.1  myocyte-specific enhancer factor 2C isoform X7

    UniProtKB/TrEMBL
    A0A0D9SFD0
  37. XM_047417207.1XP_047273163.1  myocyte-specific enhancer factor 2C isoform X6

    UniProtKB/TrEMBL
    A0A0R4J2G5
  38. XM_047417205.1XP_047273161.1  myocyte-specific enhancer factor 2C isoform X5

  39. XM_047417210.1XP_047273166.1  myocyte-specific enhancer factor 2C isoform X6

    UniProtKB/TrEMBL
    A0A0R4J2G5
  40. XM_047417216.1XP_047273172.1  myocyte-specific enhancer factor 2C isoform X7

    UniProtKB/TrEMBL
    A0A0D9SFD0
  41. XM_047417211.1XP_047273167.1  myocyte-specific enhancer factor 2C isoform X6

    UniProtKB/TrEMBL
    A0A0R4J2G5
  42. XM_047417209.1XP_047273165.1  myocyte-specific enhancer factor 2C isoform X6

    UniProtKB/TrEMBL
    A0A0R4J2G5
  43. XM_047417215.1XP_047273171.1  myocyte-specific enhancer factor 2C isoform X7

    UniProtKB/TrEMBL
    A0A0D9SFD0

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    89198250..89385215 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054352607.1XP_054208582.1  myocyte-specific enhancer factor 2C isoform X1

    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
  2. XM_054352626.1XP_054208601.1  myocyte-specific enhancer factor 2C isoform X4

  3. XM_054352617.1XP_054208592.1  myocyte-specific enhancer factor 2C isoform X3

  4. XM_054352599.1XP_054208574.1  myocyte-specific enhancer factor 2C isoform X1

    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
  5. XM_054352627.1XP_054208602.1  myocyte-specific enhancer factor 2C isoform X4

  6. XM_054352618.1XP_054208593.1  myocyte-specific enhancer factor 2C isoform X3

  7. XM_054352600.1XP_054208575.1  myocyte-specific enhancer factor 2C isoform X1

    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
  8. XM_054352623.1XP_054208598.1  myocyte-specific enhancer factor 2C isoform X3

  9. XM_054352628.1XP_054208603.1  myocyte-specific enhancer factor 2C isoform X4

  10. XM_054352619.1XP_054208594.1  myocyte-specific enhancer factor 2C isoform X3

  11. XM_054352621.1XP_054208596.1  myocyte-specific enhancer factor 2C isoform X3

  12. XM_054352611.1XP_054208586.1  myocyte-specific enhancer factor 2C isoform X1

    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
  13. XM_054352625.1XP_054208600.1  myocyte-specific enhancer factor 2C isoform X3

  14. XM_054352603.1XP_054208578.1  myocyte-specific enhancer factor 2C isoform X1

    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
  15. XM_054352604.1XP_054208579.1  myocyte-specific enhancer factor 2C isoform X1

    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
  16. XM_054352612.1XP_054208587.1  myocyte-specific enhancer factor 2C isoform X1

    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
  17. XM_054352641.1XP_054208616.1  myocyte-specific enhancer factor 2C isoform X8

  18. XM_054352615.1XP_054208590.1  myocyte-specific enhancer factor 2C isoform X2

    UniProtKB/TrEMBL
    A0A0D9SGI5
  19. XM_054352605.1XP_054208580.1  myocyte-specific enhancer factor 2C isoform X1

    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
  20. XM_054352608.1XP_054208583.1  myocyte-specific enhancer factor 2C isoform X1

    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
  21. XM_054352616.1XP_054208591.1  myocyte-specific enhancer factor 2C isoform X2

    UniProtKB/TrEMBL
    A0A0D9SGI5
  22. XM_054352601.1XP_054208576.1  myocyte-specific enhancer factor 2C isoform X1

    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
  23. XM_054352609.1XP_054208584.1  myocyte-specific enhancer factor 2C isoform X1

    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
  24. XM_054352610.1XP_054208585.1  myocyte-specific enhancer factor 2C isoform X1

    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
  25. XM_054352613.1XP_054208588.1  myocyte-specific enhancer factor 2C isoform X1

    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
  26. XM_054352602.1XP_054208577.1  myocyte-specific enhancer factor 2C isoform X1

    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
  27. XM_054352614.1XP_054208589.1  myocyte-specific enhancer factor 2C isoform X2

    UniProtKB/TrEMBL
    A0A0D9SGI5
  28. XM_054352624.1XP_054208599.1  myocyte-specific enhancer factor 2C isoform X3

  29. XM_054352606.1XP_054208581.1  myocyte-specific enhancer factor 2C isoform X1

    UniProtKB/Swiss-Prot
    C9JMZ0, D7F7N5, F8W7V7, Q06413
  30. XM_054352633.1XP_054208608.1  myocyte-specific enhancer factor 2C isoform X6

    UniProtKB/TrEMBL
    A0A0R4J2G5
  31. XM_054352637.1XP_054208612.1  myocyte-specific enhancer factor 2C isoform X7

    UniProtKB/TrEMBL
    A0A0D9SFD0
  32. XM_054352631.1XP_054208606.1  myocyte-specific enhancer factor 2C isoform X6

    UniProtKB/TrEMBL
    A0A0R4J2G5
  33. XM_054352629.1XP_054208604.1  myocyte-specific enhancer factor 2C isoform X5

  34. XM_054352638.1XP_054208613.1  myocyte-specific enhancer factor 2C isoform X7

    UniProtKB/TrEMBL
    A0A0D9SFD0
  35. XM_054352632.1XP_054208607.1  myocyte-specific enhancer factor 2C isoform X6

    UniProtKB/TrEMBL
    A0A0R4J2G5
  36. XM_054352630.1XP_054208605.1  myocyte-specific enhancer factor 2C isoform X5

  37. XM_054352635.1XP_054208610.1  myocyte-specific enhancer factor 2C isoform X6

    UniProtKB/TrEMBL
    A0A0R4J2G5
  38. XM_054352640.1XP_054208615.1  myocyte-specific enhancer factor 2C isoform X7

    UniProtKB/TrEMBL
    A0A0D9SFD0
  39. XM_054352636.1XP_054208611.1  myocyte-specific enhancer factor 2C isoform X6

    UniProtKB/TrEMBL
    A0A0R4J2G5
  40. XM_054352634.1XP_054208609.1  myocyte-specific enhancer factor 2C isoform X6

    UniProtKB/TrEMBL
    A0A0R4J2G5
  41. XM_054352639.1XP_054208614.1  myocyte-specific enhancer factor 2C isoform X7

    UniProtKB/TrEMBL
    A0A0D9SFD0